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Pheno- & Genotyping POF (WHO III)

This study is currently recruiting participants.
Verified May 2017 by Bart CJM Fauser, UMC Utrecht
Sponsor:
ClinicalTrials.gov Identifier:
NCT01411644
First Posted: August 8, 2011
Last Update Posted: May 16, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborators:
Erasmus Medical Center
Medical Center Alkmaar
University Medical Center Groningen
Leiden University Medical Center
Medisch Spectrum Twente
Isala
Department of Clinical Pharmacy, University Medical Centre St Radboud, The Netherlands.
Amphia Hospital
Deventer Ziekenhuis
Catharina Ziekenhuis Eindhoven
Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Academisch Ziekenhuis Maastricht
VU University Medical Center
Information provided by (Responsible Party):
Bart CJM Fauser, UMC Utrecht
  Purpose
This study focuses on the phenotyping and genotyping of women with hypergonadotropic ovarian dysfunction (WHO III status).

Condition
Premature Ovarian Failure (POF) Incipient Ovarian Failure Poor Response After Ovarian Hyperstimulation Early Menopause Hypergonadotropic Amenorrhea

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Phenotyping and Genotyping of Women Presenting With Ovarian Dysfunction Associated With a Hypergonadotropic Hypo-estrogenic Hormonal Status (WHO III) and Their First and Second Degree Relatives

Resource links provided by NLM:


Further study details as provided by Bart CJM Fauser, UMC Utrecht:

Biospecimen Retention:   Samples With DNA
whole blood, serum and litium heparine

Estimated Enrollment: 650
Study Start Date: January 2005
Estimated Study Completion Date: June 2019
Estimated Primary Completion Date: June 2019 (Final data collection date for primary outcome measure)
Detailed Description:

First goal of the study is to phenotype patiens with hypergonadotropic ovarian dysfunction (WHO III) adequately. This group includes women with premature ovarian failure (POF), incipient ovarian failure (IOF), poor response after ovarian hyperstimulation, early menopause and hypergonadotropic primary amenorrhea. The standardized phenotyping consists of a questionnaire focusing on reproductive, medical, and family history; ultrasonography to assess ovarian reserve and/or antral follicle count and obtaining an extra blood sampling during routine endocrine screening for genotyping.

Phenotyping of patients presenting with ovarian dysfunction is of crucial importance when genotyping will be performed. The goal of this genotyping will be the identification of genetic factors associated with the (premature) depletion of the stock of ovarian follicles. It will be performed for isolated WHO III patients in an association (case-control) study for known candidate genes. In familial WHO III cases, genome wide linkage analysis will be performed.

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   12 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Women with WHO III status who attend the outpatient clinic of participating hospitals.
Criteria

Inclusion Criteria:

  • POF; defined as secondary amenorrhea before 40 years of age and basal FSH > 40 IU/L
  • Incipient ovarian failure; defined as normo-ovulatory cycles, raised basal FSH > 12 IU/L
  • Poor response patients; defined as less than 4 oocytes retrieved or cancellation in case of absent follicle growth after ovarian hyperstimulation with 300 IU gonadotropins or cancellation in case of absent follicle growth
  • Women with early menopause (between 40-45 years)
  • Hypergonadotropic primary amenorrhea

Exclusion Criteria:

  • Primary amenorrhea with early development disorders causing absence of ovaries and Swyer syndrome (XY)
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01411644


Contacts
Contact: F. Janse, MD +31 88 75 55555 ext 53629 f.janse@umcutrecht.nl
Contact: A. J. Goverde, MD, PhD +31 88 75 55555 ext 51445 a.j.goverde@umcutrecht.nl

Locations
Netherlands
UMC Utrecht Recruiting
Utrecht, Netherlands, 3508 GA
Contact: F Janse, MD    +31 88 755 5555 ext 53629    f.janse@umcutrecht.nl   
Sponsors and Collaborators
UMC Utrecht
Erasmus Medical Center
Medical Center Alkmaar
University Medical Center Groningen
Leiden University Medical Center
Medisch Spectrum Twente
Isala
Department of Clinical Pharmacy, University Medical Centre St Radboud, The Netherlands.
Amphia Hospital
Deventer Ziekenhuis
Catharina Ziekenhuis Eindhoven
Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Academisch Ziekenhuis Maastricht
VU University Medical Center
Investigators
Study Director: Bart CJ Fauser, MD PhD UMC Utrecht
  More Information

Publications:
Knauff EA, Westerveld HE, Goverde AJ, Eijkemans MJ, Valkenburg O, van Santbrink EJ, Fauser BC, van der Schouw YT. Lipid profile of women with premature ovarian failure. Menopause. 2008 Sep-Oct;15(5):919-23. doi: 10.1097/gme.0b013e31816b4509.
Knauff EA, Eijkemans MJ, Lambalk CB, ten Kate-Booij MJ, Hoek A, Beerendonk CC, Laven JS, Goverde AJ, Broekmans FJ, Themmen AP, de Jong FH, Fauser BC; Dutch Premature Ovarian Failure Consortium. Anti-Mullerian hormone, inhibin B, and antral follicle count in young women with ovarian failure. J Clin Endocrinol Metab. 2009 Mar;94(3):786-92. doi: 10.1210/jc.2008-1818. Epub 2008 Dec 9. Erratum in: J Clin Endocrinol Metab. 2010 Jan;95(1):465.
Janse F, Knauff EA, Niermeijer MF, Eijkemans MJ, Laven JS, Lambalk CB, Fauser BC, Goverde AJ; Dutch Premature Ovarian Failure Consortium. Similar phenotype characteristics comparing familial and sporadic premature ovarian failure. Menopause. 2010 Jul;17(4):758-65. doi: 10.1097/gme.0b013e3181cf8521.
Knauff EA, Blauw HM, Pearson PL, Kok K, Wijmenga C, Veldink JH, van den Berg LH, Bouchard P, Fauser BC, Franke L; Dutch Primary Ovarian Insufficiency Consortium. Copy number variants on the X chromosome in women with primary ovarian insufficiency. Fertil Steril. 2011 Apr;95(5):1584-8.e1. doi: 10.1016/j.fertnstert.2011.01.018. Epub 2011 Feb 12.
Knauff EA, Franke L, van Es MA, van den Berg LH, van der Schouw YT, Laven JS, Lambalk CB, Hoek A, Goverde AJ, Christin-Maitre S, Hsueh AJ, Wijmenga C, Fauser BC; Dutch POF Consortium. Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene. Hum Reprod. 2009 Sep;24(9):2372-8. doi: 10.1093/humrep/dep197. Epub 2009 Jun 9.

Responsible Party: Bart CJM Fauser, professor, UMC Utrecht
ClinicalTrials.gov Identifier: NCT01411644     History of Changes
Other Study ID Numbers: METC 05-047
First Submitted: August 5, 2011
First Posted: August 8, 2011
Last Update Posted: May 16, 2017
Last Verified: May 2017

Keywords provided by Bart CJM Fauser, UMC Utrecht:
POF
IOF
Poor response
early menopause
Primary amenorrhea

Additional relevant MeSH terms:
Ovarian Hyperstimulation Syndrome
Amenorrhea
Primary Ovarian Insufficiency
Menopause, Premature
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female
Gonadal Disorders
Endocrine System Diseases
Menstruation Disturbances
Pathologic Processes


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